Solute Carrier Family 39 (Zinc Transporter), Member 14

Alternative Names

  • SLC39A14
  • ZIP14
  • KIAA0062
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OMIM Number

608736

NCBI Gene ID

23516

Uniprot ID

Q15043

Length

66,852 bases

No. of Exons

16

No. of isoforms

3

Protein Name

Metal cation symporter ZIP14

Molecular Mass

54212 Da

Amino Acid Count

492

Genomic Location

chr8:22,367,277-22,434,128

Gene Map Locus
8p21.3

Description

SLC39A14 gene encodes a broad-scope metal ion transporter, which is involved in the transport of iron, manganese, and cadmium. It is particularly responsible for zinc transportation and maintaining cellular zinc ion homeostasis. Alternatively spliced transcript variants encode multiple isoforms of the SLC39A14 protein that vary in their tissue specificity. While the gene is ubiquitously expressed, isoform 1 is seen to be highly expressed in the liver, pancreas, thyroid gland, heart as well as fetal liver and fetal heart.

Homozygous truncating and missense mutations in the SLC39A14 gene have been associated with Hypermanganesemia with Dystonia 2 (HMNDYT2), an autosomal recessive disorder characterized by developmental regression, intellectual disability, and abnormal movements such as dystonia, spasticity, bulbar dysfunction and parkinsonism. These are loss-of-function mutations that impair the hepatic uptake of manganese resulting in the hypermanganesemia and downstream neurotoxic effects seen in this disorder. 

Epidemiology in the Arab World

View Map
Variant NameCountryGenomic LocationClinical SignificanceCondition(s)HGVS ExpressionsdbSNPClinvar
NM_001128431.4:c.751-9C>G United Arab EmiratesNC_000008.11:g.22415760C>GLikely PathogenicHypermanganesemia With Dystonia 2NG_054890.1:g.53512C>G; NM_001128431.4:c.751-9C>G1039778197446707

Other Reports

Saudi Arabia

Anazi et al. (2016) described the effectiveness of genomic tools as a first-tier test is diagnosing Intellectual Disability (ID) cases. By carrying out exome sequencing, the authors uncovered a homozygous loss-of-function mutation in the SLC39A14 gene (c.313G>T, p.Glu105*) of a 2 year old Saudi girl. The SLC39A14 gene encodes a transporter of trace elements and investigations found that the patient suffered from hypermanganesemia. She also had microcephaly, mild hypertonia, neurodegeneration and an abnormal signal of globus pallidus. She was subsequently treated with chelation therapy which reduced her whole blood manganese level from 780 mg/l to 50 mg/l. The authors noted that she belonged to a consanguineous family and had a deceased sibling with a similar history.

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